Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Choroideremia: linkage analysis with physically mapped close DNA-markers.

E M Sankila1, P Sistonen, F Cremers

  • 1Department of Medical Genetics, University of Helsinki, Finland.

Human Genetics
|July 1, 1991
PubMed
Summary

Linkage studies in choroideremia (TCD) families refined the genetic map. These findings improve DNA diagnostics for TCD by precisely locating the disease gene using polymorphic markers.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Evaluation of ocular and systemic endpoints after radiation of posterior uveal melanoma - A systematic review and meta-analysis.

Heliyon·2024
Same author

Sparing the hippocampus and the hypothalamic- pituitary region during whole brain radiotherapy: a volumetric modulated arc therapy planning study.

BMC cancer·2020
Same author

No evidence for microsatellite instability in acute myeloid leukemia.

Leukemia·2017
Same author

The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia.

Leukemia·2017
Same author

Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia.

Leukemia·2016
Same author

Adult acute myeloid leukemia with trisomy 11 as the sole abnormality is characterized by the presence of five distinct gene mutations: MLL-PTD, DNMT3A, U2AF1, FLT3-ITD and IDH2.

Leukemia·2016

Area of Science:

  • Genetics
  • Molecular Biology

Background:

  • Choroideremia (TCD) is an X-linked genetic disorder.
  • Accurate gene localization is crucial for understanding TCD pathogenesis and developing diagnostics.

Purpose of the Study:

  • To refine the genetic linkage map around the TCD gene.
  • To identify the precise location of the TCD gene using polymorphic markers.

Main Methods:

  • Linkage analysis was performed in 18 TCD families.
  • Four closely linked polymorphic markers (pZ11, DXS367, DXS95, DXYS69) were used.
  • Multipoint linkage analysis was employed to determine gene order.

Main Results:

  • No recombination was observed between TCD and probe pZ11.

Related Experiment Videos

  • One recombination was detected between TCD and DXS367.
  • A double crossover between TCD and DXYS1 was identified, altering previous linkage data.
  • Multipoint analysis localized TCD proximal to DXS95-DXYS69 and very close to DXS367-pZ11.

    • Conclusions:

    • The study provides a refined genetic map for TCD.
    • These findings enhance the utility of DNA diagnostics for choroideremia.